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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Visceral Heterotaxy 6, Autosomal
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Accession:DOID:9003212 term browser browse the term
Synonyms:exact_synonym: CFAP53-RELATED CONDITION;   HTX6
 primary_id: MIM:614779

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Visceral Heterotaxy 6, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap53 cilia and flagella associated protein 53 ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 6, autosomal OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22577226 PMID:25504577 PMID:25741868 More... NCBI chrNW_004624778:13,841,227...13,891,946
Ensembl chrNW_004624778:13,839,310...13,891,714 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14215
    syndrome 9649
      visceral heterotaxy 119
        Visceral Heterotaxy 6, Autosomal 1
Path 2
Term Annotations click to browse term
  disease 14215
    Developmental Disease 12490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11727
        Congenital Abnormalities 7087
          Cardiovascular Abnormalities 1506
            congenital heart disease 1322
              visceral heterotaxy 119
                Visceral Heterotaxy 6, Autosomal 1
paths to the root